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  • 1
    Electronic Resource
    Electronic Resource
    Seven years of experience with selective screening for organic acidurias (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 208-210 
    Details
    ISSN: 1432-1076
    Keywords: Screening ; Inborn errors of metabolism ; Organic acidurias ; Propionic acidemia ; Incidence of organic acidurias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Between 1975 and 1981 nearly 9000 patients with suspected inherited metabolic diseases were investigated by a selective screening procedure including, apart from simple tests for ketone bodies, sugars and SH-containing compounds, high voltage electrophoresis of amino acids as well as gas liquid chromatography and gas liquid chromatography-mass spectrometry of the organic acids. Fifty-two cases with 18 different inborn errors of metabolism were detected. The effectivity index was calculated to be 0.6% or 1 case in about 170 requests. From the presented and from already existing data in the literature the overall incidences for all organic acidurias together and for propionic acidemia separately were appraized to be 1:10000 and 1:50000, respectively. About half of the patients diagnosed by this screening may benefit from the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442451
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 568-572 
    Details
    ISSN: 1432-1076
    Keywords: Key words Isolated ; 3-methylcrotonyl-CoA carboxylase ; deficiency ; Inborn errors of ; metabolism ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid analysis using gas chromatography-mass spectrometry at 3 months of age revealed elevated concentrations of 3-hydroxyisovaleric acid (3HIVA) and 3-methylcrotonylglycine but normal levels of lactate, 3-hydroxypropionate and methylcitrate suggesting isolated MCC deficiency. This was confirmed by enzyme assays in lymphocytes and cultured skin fibroblasts: MCC activity was virtually undetectable whereas activities of propionyl-CoA and pyruvate carboxylases were within the normal range. A low protein (0.8–1.5 g/kg/ day) diet supplemented with a leucine-free amino acid mixture resulted in a marked decrease of 3HIVA excretion. l-Carnitine and biotin administration had no effect on the clinical condition or metabolite excretion. Supplementation with glycine resulted in only a temporary fall of 3HIVA excretion and was therefore discontinued. l-Carnitine therapy was reintroduced later because of secondary carnitine deficiency. Compliance with treatment was poor until the age of 27 months resulting in a severe episode with seizures and coma. The general clinical condition of the patient was always good but his psychomotor development was delayed and seizures were not continuously under good control due to poor therapy compliance. The boy is now 10.5 years old and attending a school for children with learning handicaps. Conclusion Isolated MCC deficiency of early-onset is a rare condition exhibiting a more severe clinical course than the later-onset form described in most other cases. The prognostic value of 3 HIVA measurements in CSF and serum should be evaluated in future cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 260-266 
    Details
    ISSN: 1432-1076
    Keywords: Screening ; Inborn metabolic disorders ; Proton-NMR ; spectrometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract NMR spectrometry, hitherto a powerful tool in organic chemistry for elucidating the structures of chemical compounds, has been improved during recent years to become a method suitable for detection of normal and abnormal metabolites in physiologic media. We have investigated native urinary specimens from patients known to suffer from different inherited metabolic disorders using a 250 MHz FT-NMR spectrometer and were able to confirm the diagnosis in every case. Chemical shift values of a variety of appropriate metabolites, run at pH 2.5, are presented here. It is concluded, that NMR spectrometry is an excellent method with which to screen for inborn errors of metabolism provided that high-field instruments with the best available specifications are applied.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439397
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    Paper (German National Licenses)
    Fulltext
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